Related Experiment Video
Updated: Jan 20, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Clinical and genetic analysis of long QT syndrome in two Malay children
A R Wong1, B A Zilfalil2, Z A Bhuiyan3
1Universiti Sultan Zainal Abidin, Faculty of Medicine, Department of Paediatrics, Kuala Terengganu, Terengganu, Malaysia. arahimwong@unisza.edu.my.
Abstract:
Long QT syndrome (LQTS) is predominantly a genetic cardiac arrhythmia disorder. We report here our study on long QT syndrome from two children from Kelantan, Malaysia. Clinical and genetic findings of these two unrelated Malay children with LQTS is discussed. We found a Long QT, type 1 causal mutation, p.Ile567Thr in the KCNQ1 gene in the first child. A pathogenic mutation could not be detected in the second child, explaining the heterogeneity of this disease.
Related Concept Videos
Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Statistical Software for Data Analysis and Clinical Trials
Genetics of Speciation
What is Population Genetics?
What is Genetic Engineering?

